Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. Hum Genomics. 2016 Aug 12;10(1):27.Ho Duy B, Zhytnik L, Maasalu K, et al. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. Hum...
关键词:成骨不全; COL1A1/COL1A2 基因; 产前基因诊断中图分类号:R714. 55 文献标识码:A文章编号:1006 -9534 (2012)010 -0022 -03Gene mutation analysis of COL1A1/COL1A2 and prenatal genetic diagnosis of osteogenesis imperfecta. LI Huan -zheng,TANG Shao - hua,Mao Yi - jian,XIE Bing - le...
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfectadoi:10.1002/ajmg.a.37272ShubhaDepartmentR.DepartmentPhadkeDepartmentWileyAmerican Journal of Medical Genetics Part AStephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, ...
成骨不全症合并 Ehlers-Danlos综合征1型 (OIEDS1)由染色体7q21上的COL1A1基因(120150)和COL1A2基因(120160)突变引起,是一种常染色体显性遗传性疾病,临床特征为广泛性结缔组织特征性成骨不全症(骨骼脆弱、长骨骨折、蓝色巩膜)合并Ehlers-Danlos综合征(关节过伸、皮肤柔软、...
常染色体显性遗传的OI由Ⅰ型胶原编码基因COL1A1基因(NM_000088.3)和COL1A2基因(NM_000089.3)杂合变异导致,主要临床特征包括骨密度降低、骨质脆、轻微碰撞易骨折、听力损失、牙本质发育不全、蓝巩膜等,临床严重程度差异很大,轻者无明显症状,重者围生期死亡 [ 2 ] 。本例患儿生后多发骨折,全外显子测序提示17号...
the type of COL1A1 or COL1A2 mutation and hearing loss in osteo2 genesis imperfecta patients[ J ]. Human Mutation , 2004, 24 ( 2 ) : 1472154. COL 1A1 gene m uta tion in a fam ily w ith osteogenesis im perfecta type IV
Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JAM, Tromp G, Weksberg R, Prockop DJ (1991) A mutation in the proα2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common ...
在2个存在COL1A2基因同一突变(c.1009G>A)的家系中,2例先证者的甲基化程度均高于其母亲.结论 国人OI家系内COL1A1和COL1A2基因同一突变发生不同表型的比率为17%.在这21个表型不一的家系中只有1例(4.8%)先证者的父亲存在体细胞镶嵌.甲基化程度可能与表型严重程度有关.在遗传咨询...
1997). DNA linkage studies have suggested that >90% of probands with OI have a mutation in either the COL1A1 gene or the COL1A2 gene (Sykes et al. 1990). However, most unrelated probands have different mutations, and it has been difficult to define the mutations in a number of ...
thestructureofthemutationI last,we typecollagen proband.At predicted the informationsoftinintemet. biochemistry through 成骨不全的分子遗传学研究一∞L川』基因致病突变的初探 Results Wefound4casesof caseofRNA mutationsand substitutions,onesplicing glycin onecaseofframeshiffmutationinCOLIAl thesame normal ...